Micrognathia, and Delayed puberty

Diseases related with Micrognathia and Delayed puberty

In the following list you will find some of the most common rare diseases related to Micrognathia and Delayed puberty that can help you solving undiagnosed cases.

Top matches:

Short stature due to primary acid-labile subunit (ALS) deficiency is characterized by moderate postnatal growth deficit, markedly low circulating levels of insulin-like growth factor 1 (IGF-1) and insulin-like growth factor binding protein 3 (IGFBP-3), and hyperinsulinemia, in the absence of growth hormone (GH) deficiency or GH insensitivity.

Related symptoms:

  • Growth delay
  • Micrognathia
  • Delayed skeletal maturation
  • Delayed puberty
  • Insulin resistance


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHORT STATURE DUE TO PRIMARY ACID-LABILE SUBUNIT DEFICIENCY

Medium match LARON SYNDROME

Laron syndrome is a congenital disorder characterized by marked short stature associated with normal or high serum growth hormone (GH) and low serum insulin-like growth factor-1 (IGF-I) levels which fail to rise after exogenous GH administration.

LARON SYNDROME Is also known as complete growth hormone insensitivity|primary growth hormone insensitivity|gh receptor deficiency|growth hormone receptor deficiency|laron-type dwarfism|short stature due to growth hormone resistance|pituitary dwarfism ii|primary growth hormone resistance

Related symptoms:

  • Intellectual disability
  • Micrognathia
  • Abnormal facial shape
  • Motor delay
  • Brachydactyly


SOURCES: ORPHANET MENDELIAN

More info about LARON SYNDROME

Related symptoms:

  • Short stature
  • Micrognathia
  • Abnormality of the skeletal system
  • Abnormality of the dentition
  • Short nose


SOURCES: ORPHANET MENDELIAN

More info about MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY

Other less relevant matches:

Medium match PGM1-CDG

Congenital disorder of glycosylation type It (CDG1T) is an autosomal recessive disorder characterized by a wide range of clinical manifestations and severity. The most common features include cleft lip and bifid uvula, apparent at birth, followed by hepatopathy, intermittent hypoglycemia, short stature, and exercise intolerance, often accompanied by increased serum creatine kinase. Less common features include rhabdomyolysis, dilated cardiomyopathy, and hypogonadotropic hypogonadism (summary by Tegtmeyer et al., 2014).For a discussion of the classification of CDGs, see CDG1A (OMIM ).

PGM1-CDG Is also known as glycogen storage disease xiv|gsd14|gsd xiv|congenital disorder of glycosylation type it|cdg syndrome type it|cdg-it|cdg it|cdg1t|cdgit|phosphoglucomutase-1 deficiency|pgm1 deficiency|phosphoglucomutase 1 deficiency|congenital disorder of glycosylation typ

Related symptoms:

  • Short stature
  • Growth delay
  • Micrognathia
  • Muscle weakness
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about PGM1-CDG

Mitochondrial myopathy and sideroblastic anemia belongs to the heterogeneous family of metabolic myopathies. It is characterised by progressive exercise intolerance manifesting in childhood, onset of sideroblastic anaemia around adolescence, lactic acidaemia, and mitochondrial myopathy.

MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA Is also known as msa|mlasa|myopathy, lactic acidosis and sideroblastic anemia|mitochondrial myopathy and sideroblastic anemia

Related symptoms:

  • Intellectual disability
  • Seizures
  • Microcephaly
  • Scoliosis
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA

Wilson-Turner syndrome (WTS) is a very rare X-linked multisystem genetic disease characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature.

WILSON-TURNER SYNDROME Is also known as wts|mental retardation, x-linked, with gynecomastia and obesity|mrxs6|mental retardation, x-linked, syndromic 6|x-linked intellectual disability-gynecomastia-obesity syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about WILSON-TURNER SYNDROME

Blackfan-Diamond anemia (DBA) is a congenital aregenerative and often macrocytic anemia with erythroblastopenia.

BLACKFAN-DIAMOND ANEMIA Is also known as congenital hypoplastic anemia, blackfan-diamond type|congenital pure red cell aplasia|aase-smith syndrome ii|congenital prca|aase-smith ii syndrome|aase syndrome

Related symptoms:

  • Short stature
  • Growth delay
  • Hypertelorism
  • Neoplasm
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about BLACKFAN-DIAMOND ANEMIA

Harel-Yoon syndrome is a syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy. Other more variable features such as optic atrophy may also occur. Laboratory studies in some patients show evidence of mitochondrial dysfunction (summary by Harel et al., 2016).

OPTIC ATROPHY-PERIPHERAL NEUROPATHY-DEVELOPMENTAL DELAY SYNDROME Is also known as harel-yoon syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about OPTIC ATROPHY-PERIPHERAL NEUROPATHY-DEVELOPMENTAL DELAY SYNDROME

Medium match MEHMO SYNDROME

MEHMO syndrome is characterised by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism, and obesity. Growth delay and diabetes are also present. To date, it has been described in seven boys, all of whom died within the first two years of life. The causative gene has been localised to the 21.1-22.13p region of the X chromosome and the syndrome appears to result from mitochondrial dysfunction.

MEHMO SYNDROME Is also known as mental retardation, x-linked, syndromic 25|mental retardation, x-linked, syndromic, borck type|x-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome|mrxs25|mrxsbrk|mrxs20|mental retardation, x-linked, syndromic 2

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MEHMO SYNDROME

GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY Is also known as growth hormone insensitivity due to postreceptor defect|laron syndrome due to postreceptor defect

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY

Top 5 symptoms//phenotypes associated to Micrognathia and Delayed puberty

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Micrognathia and Delayed puberty. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Delayed skeletal maturation Truncal obesity Hypoglycemia Short nose Delayed speech and language development Absent speech Obesity Cleft palate Prematurely aged appearance Deeply set eye Muscular hypotonia Failure to thrive Depressed nasal ridge Microcephaly Hypoplasia of penis High forehead Cleft lip Hypogonadism Global developmental delay

Rare Symptoms - Less than 30% cases

Hypogonadotrophic hypogonadism Anemia Bifid uvula Scoliosis Exercise intolerance Kyphosis Prominent forehead Cardiomyopathy Long philtrum Acidosis Pallor Lactic acidosis Inability to walk Increased serum lactate Autism Muscular hypotonia of the trunk Growth hormone deficiency Gait ataxia Myopia Spasticity Nystagmus Generalized hypotonia Intrauterine growth retardation Cataract Neoplasm Broad nasal tip Tapered finger Poor speech Micropenis Long face Cryptorchidism External genital hypoplasia Fatigue Retrognathia Muscle weakness Abnormality of the skeletal system Decreased serum insulin-like growth factor 1 Brachydactyly Underdeveloped supraorbital ridges Reduced number of teeth Abnormality of the elbow Severe short stature Delayed eruption of teeth Insulin resistance Hypercholesterolemia Short toe Microdontia Motor delay Aplasia/Hypoplasia involving the nose Hypoplastic nasal bridge High pitched voice Blue sclerae Hypohidrosis Osteoarthritis Insulin insensitivity Hip dysplasia Aciduria Esotropia Mild postnatal growth retardation Distal amyotrophy Reduced insulin like growth factor binding protein acid labile subunit level Peripheral axonal neuropathy Cerebellar atrophy Upslanted palpebral fissure Congenital cataract Mandibular prognathia Hypertrophic cardiomyopathy Pectus carinatum Abnormality of the foot Feeding difficulties Frontal bossing Tracheomalacia Thick lower lip vermilion Mitral regurgitation Abnormality of the genital system Short thumb Melanoma Abnormality of the urinary system Abnormality of the hand Triphalangeal thumb Macrocytic anemia Acute leukemia Optic atrophy Esophagitis Increased mean corpuscular volume Cleft soft palate Reticulocytopenia Fetal distress Persistence of hemoglobin F Ataxia Optic nerve hypoplasia Peripheral neuropathy Absence seizures Strabismus Abnormality of mitochondrial metabolism Recurrent infections Agitation Depressed nasal tip Large earlobe Male hypogonadism Abdominal obesity Birth length less than 3rd percentile Tall chin Hearing impairment Cognitive impairment Respiratory distress Diarrhea Pneumonia Widely spaced teeth Progressive visual loss Eczema Abnormal lung morphology Chronic diarrhea Lymphopenia Increased body weight Short long bone Keratitis Proportionate short stature Concave nasal ridge Immune dysregulation Delayed menarche Drooling Pancreatitis Mitral valve prolapse EEG abnormality Hyperreflexia Talipes equinovarus Ventriculomegaly Hypoplasia of the corpus callosum Intellectual disability, severe Hypertonia Hypospadias Babinski sign Diabetes mellitus Hyperactivity Macrotia Difficulty walking Aggressive behavior Spastic tetraparesis Attention deficit hyperactivity disorder Small for gestational age Severe global developmental delay Thick vermilion border Downturned corners of mouth Full cheeks Round face Sloping forehead Tetraparesis Open mouth Lower limb spasticity Progressive microcephaly Ventricular hypertrophy Osteoporosis Tetralogy of Fallot Osteolysis Type I transferrin isoform profile Chronic hepatitis Reduced antithrombin III activity Increased intramyocellular lipid droplets Exercise-induced muscle fatigue Increased muscle glycogen content Cerebral venous thrombosis Type II transferrin isoform profile Abnormal protein glycosylation Hyperlipidemia Abnormality of the hair Hyperinsulinemic hypoglycemia Hyperpigmentation of the skin Large fontanelles Ptosis Thin skin High palate Edema Myopathy Convex nasal ridge Short distal phalanx of finger Abnormality of metabolism/homeostasis Small face Pierre-Robin sequence Myoclonus Abnormality of the liver Abnormality of the fingertips Acroosteolysis of distal phalanges (feet) Intellectual disability, mild Elevated serum creatine phosphokinase Aplasia/Hypoplasia of the clavicles Osteolytic defects of the distal phalanges of the hand Hypothyroidism Dyspnea Elevated hepatic transaminase Generalized lipodystrophy Dilated cardiomyopathy Malignant hyperthermia Tachycardia Hepatic steatosis Muscle cramps Calcinosis Chest pain Hepatitis Cardiac arrest Progeroid facial appearance Dermal atrophy Abnormality of the coagulation cascade Rhabdomyolysis Encephalopathy Glaucoma Migraine Misalignment of teeth Hypermetropia Thick eyebrow Small hand Short foot Decreased testicular size Specific learning disability Gynecomastia Prominent supraorbital ridges Emotional lability Decreased muscle mass Malar prominence Microtia Uplifted earlobe Short ear Hypertelorism Ventricular septal defect Atrial septal defect Patent ductus arteriosus Arrhythmia Fever Autistic behavior Cleft upper lip Neutropenia Neurological speech impairment Thin upper lip vermilion Nail dystrophy Stroke-like episode Proptosis Stroke Narrow mouth Alopecia Progressive muscle weakness EMG abnormality Ragged-red muscle fibers Microcytic anemia Increased serum ferritin Mitochondrial myopathy Distichiasis Pes planus Sideroblastic anemia Hypochromic anemia Cytochrome C oxidase-negative muscle fibers Erythroid hyperplasia Generalized limb muscle atrophy Chronic lactic acidosis Abnormality of the dentition Abnormality of the endocrine system Abnormality of the skull Pes cavus Brachycephaly Lymphoid interstitial pneumonia


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